Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
5-125880449-A-AT n.2037_2038insA splice_region ALDH7A1 7 58294 1.20081E-4 29147 1 9.55597E-5
5-125880680-C-T p.Ala533Thr missense ALDH7A1 1 82912 1.2061E-5 41456 0 1.2738E-4
5-125880710-T-C p.Thr523Ala missense+splice_region ALDH7A1 370 82828 0.00446709 41414 7 0.00450204
5-125880712-C-A c.1566-1G>T splice_acceptor ALDH7A1 1 82824 1.20738E-5 41412 0 1.59406E-5
5-125880717-G-T c.1566-6C>A splice_region ALDH7A1 1 82740 1.20861E-5 41370 0 3.98762E-6
5-125880719-G-A c.1566-8C>T splice_region ALDH7A1 1 82716 1.20896E-5 41358 0 1.65813E-5
5-125882015-C-A c.1565+1G>T splice_donor ALDH7A1 1 83264 1.201E-5 41632 0 NA
5-125882017-A-T p.Cys522Ser missense+splice_region ALDH7A1 1 83262 1.20103E-5 41631 0 1.19313E-5
5-125882034-T-C p.Tyr516Cys missense ALDH7A1 3 83246 3.60378E-5 41623 0 7.15939E-5
5-125882054-G-C p.Gly509Gly synonymous ALDH7A1 1 83228 1.20152E-5 41614 0 NA
5-125882068-C-G p.Gly505Arg missense ALDH7A1 4 83202 4.80758E-5 41601 0 9.06334E-5
5-125882075-A-G p.Thr502Thr synonymous ALDH7A1 1 83190 1.20207E-5 41595 0 4.94405E-5
5-125882090-T-C p.Gly497Gly splice_region+synonymous ALDH7A1 2 83098 2.4068E-5 41549 0 8.25668E-6
5-125885584-G-C n.484C>G splice_region ALDH7A1 2 83044 2.40836E-5 41522 0 8.23791E-6
5-125885616-C-T c.1489+5G>A splice_region ALDH7A1 1 83180 1.20221E-5 41590 0 6.25E-4
5-125885617-G-A c.1489+4C>T splice_region ALDH7A1 1 83180 1.20221E-5 41590 0 1.19338E-5
5-125885629-C-A p.Gly494Val missense ALDH7A1 4 83212 4.807E-5 41606 0 1.19342E-5
5-125885649-T-C p.Thr487Thr synonymous ALDH7A1 3 83220 3.6049E-5 41610 0 3.18471E-5
5-125885667-T-C p.Val481Val synonymous ALDH7A1 1 83240 1.20135E-5 41620 0 NA
5-125885669-C-A p.Val481Leu missense ALDH7A1 1 83246 1.20126E-5 41623 0 NA
5-125885679-G-A p.Asp477Asp synonymous ALDH7A1 1 83254 1.20114E-5 41627 0 NA
5-125885693-G-T p.Pro473Thr missense+splice_region ALDH7A1 1 83246 1.20126E-5 41623 0 NA
5-125885699-G-A c.1416-5C>T splice_region ALDH7A1 1 83236 1.2014E-5 41618 0 1.64737E-5
5-125885892-G-A p.Leu471Phe missense ALDH7A1 3 82910 3.61838E-5 41455 0 3.98121E-6
5-125885897-C-T p.Arg469His missense ALDH7A1 24 82952 2.89324E-4 41476 0 0.00117879
5-125885898-G-A p.Arg469Cys missense ALDH7A1 2 83002 2.40958E-5 41501 0 4.12031E-5
5-125885914-A-G p.Asp463Asp synonymous ALDH7A1 1 83096 1.20343E-5 41548 0 NA
5-125885927-A-G p.Ile459Thr missense ALDH7A1 6 83112 7.21917E-5 41556 0 1.59185E-5
5-125885928-T-C p.Ile459Val missense ALDH7A1 1 83108 1.20325E-5 41554 0 1.6478E-5
5-125885941-T-C p.Gly454Gly synonymous ALDH7A1 3 83104 3.60993E-5 41552 0 NA
5-125885945-T-C p.Gln453Arg missense ALDH7A1 2 83102 2.40668E-5 41551 0 7.96026E-6
5-125885945-T-G p.Gln453Pro missense ALDH7A1 1 83102 1.20334E-5 41551 0 3.98013E-6
5-125885947-T-G p.Lys452Asn missense ALDH7A1 6 83104 7.21987E-5 41552 0 5.04032E-4
5-125885959-A-T p.Asn448Lys missense ALDH7A1 1 83062 1.20392E-5 41531 0 NA
5-125885960-T-A p.Asn448Ile missense ALDH7A1 1 83056 1.20401E-5 41528 0 NA
5-125885983-A-G p.Asn440Asn splice_region+synonymous ALDH7A1 1 82902 1.20624E-5 41451 0 2.47827E-5
5-125887715-T-G p.Lys439Gln missense+splice_region ALDH7A1 7147 82516 0.0866135 41258 344 0.114207
5-125887715-T-C p.Lys439Glu missense+splice_region ALDH7A1 1 82716 1.20896E-5 41358 0 NA
5-125887725-G-C p.Val435Val synonymous ALDH7A1 7 82876 8.44635E-5 41438 0 8.25396E-5
5-125887727-C-A p.Val435Phe missense ALDH7A1 2 82918 2.41202E-5 41459 0 NA
5-125887729-T-C p.Tyr434Cys missense ALDH7A1 9 82960 1.08486E-4 41480 0 2.47606E-5
5-125887729-T-G p.Tyr434Ser missense ALDH7A1 1 82960 1.2054E-5 41480 0 3.98096E-6
5-125887733-G-A p.Leu433Phe missense ALDH7A1 1 83032 1.20435E-5 41516 0 NA
5-125887733-G-T p.Leu433Ile missense ALDH7A1 1 83032 1.20435E-5 41516 0 NA
5-125887734-A-C p.Ile432Met missense ALDH7A1 1 83060 1.20395E-5 41530 0 8.25396E-6
5-125887738-G-A p.Pro431Leu missense ALDH7A1 2 83088 2.40709E-5 41544 0 3.18474E-5
5-125887743-A-G p.Phe429Phe synonymous ALDH7A1 6 83154 7.21553E-5 41577 0 1.27356E-4
5-125887750-T-C p.Glu427Gly missense ALDH7A1 4 83178 4.80896E-5 41589 0 3.98026E-6
5-125887751-C-G p.Glu427Gln missense ALDH7A1 25 83186 3.00531E-4 41593 0 4.21119E-4
5-125887752-T-A p.Thr426Thr synonymous ALDH7A1 2 83186 2.40425E-5 41593 0 NA
5-125887754-T-C p.Thr426Ala missense ALDH7A1 6 83196 7.21189E-5 41598 0 1.91119E-4
5-125887757-G-A p.His425Tyr missense ALDH7A1 2 83204 2.40373E-5 41602 0 3.18532E-5
5-125887758-T-C p.Ala424Ala synonymous ALDH7A1 1 83194 1.20201E-5 41597 0 1.1939E-5
5-125887763-T-C p.Ile423Val missense ALDH7A1 2 83200 2.40385E-5 41600 0 1.65186E-5
5-125887767-C-T p.Ala421Ala synonymous ALDH7A1 5 83214 6.0086E-5 41607 0 3.90103E-4
5-125887768-G-A p.Ala421Val missense ALDH7A1 1 83216 1.20169E-5 41608 0 5.03525E-4
5-125887770-A-G p.Asp420Asp synonymous ALDH7A1 2 83232 2.40292E-5 41616 0 NA
5-125887793-T-C p.Ile413Val missense ALDH7A1 1 83232 1.20146E-5 41616 0 5.79048E-5
5-125887796-T-C p.Thr412Ala missense ALDH7A1 183 83230 0.00219873 41615 9 0.00682576
5-125887798-G-A p.Pro411Leu missense ALDH7A1 1 83232 1.20146E-5 41616 0 1.65555E-5
5-125887802-C-G p.Glu410Gln missense ALDH7A1 2 83242 2.40263E-5 41621 0 NA
5-125887806-A-G p.Tyr408Tyr synonymous ALDH7A1 4 83232 4.80584E-5 41616 0 6.25E-4
5-125887818-G-A p.Arg404Arg synonymous ALDH7A1 6 83244 7.20773E-5 41622 0 8.29738E-6
5-125887819-C-T p.Arg404His missense ALDH7A1 1 83232 1.20146E-5 41616 0 1.66036E-5
5-125887820-G-A p.Arg404Cys missense ALDH7A1 1 83240 1.20135E-5 41620 0 3.18471E-5
5-125887834-T-C c.1201-5A>G splice_region ALDH7A1 2 83208 2.40361E-5 41604 0 2.49938E-5
5-125887837-A-G c.1201-8T>C splice_region ALDH7A1 10 83194 1.20201E-4 41597 0 7.17263E-5
5-125889982-G-GC p.Lys400fs frameshift ALDH7A1 1 83280 1.20077E-5 41640 0 NA
5-125889982-G-GCC p.Lys400fs frameshift ALDH7A1 1 83280 1.20077E-5 41640 0 NA
5-125890029-C-T p.Ala384Thr missense ALDH7A1 2 83348 2.39958E-5 41674 0 1.59226E-4
5-125890040-A-G p.Met380Thr missense ALDH7A1 4 83336 4.79985E-5 41668 0 3.18471E-5
5-125890047-C-T p.Val378Met missense ALDH7A1 1 83330 1.20005E-5 41665 0 NA
5-125890050-C-T p.Ala377Thr missense ALDH7A1 1 83312 1.20031E-5 41656 0 NA
5-125890076-A-G p.Leu368Pro missense ALDH7A1 2 83284 2.40142E-5 41642 0 NA
5-125890088-GGA-G c.1094-5_1094-4delTC splice_region ALDH7A1 1 83218 1.20166E-5 41609 0 6.37064E-5
5-125891615-A-T c.1093+8T>A splice_region ALDH7A1 1 83190 1.20207E-5 41595 0 NA
5-125891616-T-C c.1093+7A>G splice_region ALDH7A1 4 83178 4.80896E-5 41589 0 0.00125
5-125891622-C-T c.1093+1G>A splice_donor ALDH7A1 1 83212 1.20175E-5 41606 0 NA
5-125891623-G-A p.Pro365Ser missense+splice_region ALDH7A1 2 83216 2.40338E-5 41608 0 1.98912E-5
5-125891625-T-C p.Asp364Gly missense+splice_region ALDH7A1 1 83214 1.20172E-5 41607 0 7.95602E-6
5-125891626-C-T p.Asp364Asn missense ALDH7A1 1 83226 1.20155E-5 41613 0 NA
5-125891630-T-C p.Pro362Pro synonymous ALDH7A1 1 83222 1.20161E-5 41611 0 NA
5-125891632-G-A p.Pro362Ser missense ALDH7A1 1 83220 1.20163E-5 41610 0 6.76224E-5
5-125891643-C-A p.Arg358Leu missense ALDH7A1 1 83238 1.20137E-5 41619 0 3.18552E-5
5-125891648-C-T p.Gln356Gln synonymous ALDH7A1 10 83270 1.20091E-4 41635 0 2.30802E-4
5-125891670-C-G p.Arg349Thr missense ALDH7A1 16 83228 1.92243E-4 41614 0 0.00151057
5-125891694-C-T p.Ser341Asn missense ALDH7A1 11 83162 1.32272E-4 41581 0 4.95311E-5
5-125891699-A-G n.526T>C splice_region ALDH7A1 4 83140 4.81116E-5 41570 0 0.0025
5-125891700-T-C p.His339Arg missense ALDH7A1 2 83134 2.40575E-5 41567 0 2.5481E-4
5-125891706-A-C p.Phe337Cys missense+splice_region ALDH7A1 1 83124 1.20302E-5 41562 0 9.15335E-5
5-125891713-C-T c.1009-6G>A splice_region ALDH7A1 184 83060 0.00221527 41530 1 0.00483092
5-125891714-G-C c.1009-7C>G splice_region ALDH7A1 1 83072 1.20378E-5 41536 0 3.30338E-5
5-125894931-C-T c.1008+1G>A splice_donor ALDH7A1 1 82892 1.20639E-5 41446 0 7.96388E-6
5-125894936-C-T p.Arg335Gln missense ALDH7A1 3 82894 3.61908E-5 41447 0 8.25832E-6
5-125894937-G-A p.Arg335* stop_gained ALDH7A1 1 82898 1.2063E-5 41449 0 1.59286E-5
5-125894941-C-T p.Ala333Ala synonymous ALDH7A1 3 82914 3.61821E-5 41457 0 8.25859E-6
5-125894942-G-A p.Ala333Val missense ALDH7A1 3 82906 3.61856E-5 41453 0 3.18674E-5
5-125894955-TC-T p.Arg329fs frameshift ALDH7A1 1 82934 1.20578E-5 41467 0 3.18857E-5
5-125894966-G-C p.Thr325Arg missense ALDH7A1 1 82948 1.20557E-5 41474 0 7.96413E-6
5-125894977-A-G p.Ala321Ala synonymous ALDH7A1 3 82994 3.61472E-5 41497 0 NA
5-125894980-G-A p.Phe320Phe synonymous ALDH7A1 13 82988 1.56649E-4 41494 0 1.59286E-4
5-125894987-G-A p.Ala318Val missense ALDH7A1 2 83020 2.40906E-5 41510 0 NA
5-125895000-C-G p.Val314Leu missense ALDH7A1 1 83120 1.20308E-5 41560 0 8.2616E-6
5-125895026-G-C p.Ala305Gly missense+splice_region ALDH7A1 6 83158 7.21518E-5 41579 0 2.23143E-4
5-125895031-G-C c.914-5C>G splice_region ALDH7A1 1 83172 1.20233E-5 41586 0 3.98007E-6
5-125896767-A-G c.913+8T>C splice_region ALDH7A1 6 83230 7.20894E-5 41615 0 1.07133E-4
5-125896769-C-T c.913+6G>A splice_region ALDH7A1 1 83226 1.20155E-5 41613 0 NA
5-125896770-C-T c.913+5G>A splice_region ALDH7A1 3 83226 3.60464E-5 41613 0 3.18634E-5
5-125896776-A-G p.Ile304Ile splice_region+synonymous ALDH7A1 1 83236 1.2014E-5 41618 0 3.18573E-5
5-125896822-A-G c.872-6T>C splice_region ALDH7A1 1 82686 1.20939E-5 41343 0 4.00503E-6
5-125900068-G-C n.615C>G splice_region ALDH7A1 2 55022 3.63491E-5 27511 0 NA
5-125900289-A-G n.892-5T>C splice_region ALDH7A1 1 68944 1.45045E-5 34472 0 NA
5-125900292-A-G n.892-8T>C splice_region ALDH7A1 676 68882 0.00981388 34441 5 0.00951866
5-125903944-C-T c.871+7G>A splice_region ALDH7A1 4 83334 4.79996E-5 41667 0 2.47101E-5
5-125903948-T-TA c.871+2_871+3insT splice_donor ALDH7A1 1 83364 1.19956E-5 41682 0 NA
5-125903962-T-C p.Gln287Arg missense ALDH7A1 3 83376 3.59816E-5 41688 0 3.97643E-6
5-125903963-G-A p.Gln287* stop_gained ALDH7A1 1 83374 1.19941E-5 41687 0 3.97646E-6
5-125903964-C-T p.Val286Val synonymous ALDH7A1 6 83376 7.19632E-5 41688 0 5.03525E-4
5-125903969-T-C p.Met285Val missense ALDH7A1 1 83376 1.19939E-5 41688 0 5.03525E-4
5-125903979-C-T p.Gln281Gln synonymous ALDH7A1 1 83386 1.19924E-5 41693 0 NA
5-125903979-C-G p.Gln281His missense ALDH7A1 1 83386 1.19924E-5 41693 0 8.23642E-6
5-125903988-C-T p.Val278Val synonymous ALDH7A1 7 83394 8.39389E-5 41697 0 5.76549E-5
5-125903988-C-G p.Val278Val synonymous ALDH7A1 1 83394 1.19913E-5 41697 0 8.23642E-6
5-125903992-T-G p.Gln277Pro missense ALDH7A1 1 83390 1.19918E-5 41695 0 NA
5-125903996-T-G p.Thr276Pro missense ALDH7A1 2 83384 2.39854E-5 41692 0 NA
5-125903996-T-C p.Thr276Ala missense ALDH7A1 1 83384 1.19927E-5 41692 0 7.95273E-6
5-125904015-C-G p.Leu269Leu synonymous ALDH7A1 1 83362 1.19959E-5 41681 0 NA
5-125904025-C-T p.Arg266Gln missense ALDH7A1 4 83336 4.79985E-5 41668 0 NA
5-125904026-G-A p.Arg266* stop_gained ALDH7A1 3 83328 3.60023E-5 41664 0 7.95305E-6
5-125904035-T-C p.Lys263Glu missense ALDH7A1 1 83318 1.20022E-5 41659 0 NA
5-125904041-T-C p.Met261Val missense ALDH7A1 2 83304 2.40085E-5 41652 0 9.55353E-5
5-125904042-T-C p.Ala260Ala synonymous ALDH7A1 2 83292 2.40119E-5 41646 0 6.36289E-5
5-125904044-C-G p.Ala260Pro missense ALDH7A1 4 83300 4.80192E-5 41650 0 NA
5-125904056-G-C c.774-8C>G splice_region ALDH7A1 1 83260 1.20106E-5 41630 0 3.97674E-6
5-125906467-A-G c.773+7T>C splice_region ALDH7A1 2 83354 2.3994E-5 41677 0 1.27356E-4
5-125906468-A-G c.773+6T>C splice_region ALDH7A1 1 83354 1.1997E-5 41677 0 NA
5-125906470-C-T c.773+4G>A splice_region ALDH7A1 1 83358 1.19964E-5 41679 0 3.1841E-5
5-125906474-C-G p.Gly258Ala missense+splice_region ALDH7A1 1 83354 1.1997E-5 41677 0 NA
5-125906480-T-C p.Asp256Gly missense ALDH7A1 1 83368 1.1995E-5 41684 0 NA
5-125906497-C-T p.Leu250Leu synonymous ALDH7A1 1 83368 1.1995E-5 41684 0 NA
5-125906499-A-T p.Leu250Met missense ALDH7A1 1 83362 1.19959E-5 41681 0 2.47093E-5
5-125906527-G-A p.Asp240Asp synonymous ALDH7A1 6 83346 7.19891E-5 41673 0 4.11889E-5
5-125906542-G-C p.Ala235Ala synonymous ALDH7A1 1 83328 1.20008E-5 41664 0 6.37186E-5
5-125906550-T-C p.Ile233Val missense+splice_region ALDH7A1 1 83300 1.20048E-5 41650 0 NA
5-125906554-A-G c.696-3T>C splice_region ALDH7A1 2 83270 2.40183E-5 41635 0 8.24226E-6
5-125906557-A-C c.696-6T>G splice_region ALDH7A1 1 83262 1.20103E-5 41631 0 8.24294E-6
5-125906559-G-C c.696-8C>G splice_region ALDH7A1 2 83238 2.40275E-5 41619 0 3.97728E-6
5-125911107-C-T c.695+5G>A splice_region ALDH7A1 1 82816 1.2075E-5 41408 0 8.64289E-6
5-125911124-A-G p.Val228Ala missense ALDH7A1 2 82924 2.41185E-5 41462 0 7.97614E-6
5-125911132-G-A p.Leu225Leu synonymous ALDH7A1 888 82954 0.0107047 41477 21 0.02
5-125911143-T-C p.Thr222Ala missense ALDH7A1 4 83012 4.81858E-5 41506 0 2.69493E-5
5-125911148-G-A p.Ala220Val missense ALDH7A1 1 83024 1.20447E-5 41512 0 NA
5-125911151-C-G p.Gly219Ala missense ALDH7A1 3 83032 3.61306E-5 41516 0 6.37349E-5
5-125911156-CCTT-C c.651-3_651-1delAAG splice_acceptor ALDH7A1 1 83026 1.20444E-5 41513 0 3.18695E-5
5-125911156-C-G p.Trp217Cys missense+splice_region ALDH7A1 1 83026 1.20444E-5 41513 0 NA
5-125912766-C-G c.650+5G>C splice_region ALDH7A1 3 83178 3.60672E-5 41589 0 8.23791E-6
5-125912775-G-A p.Leu216Phe missense ALDH7A1 1 83294 1.20057E-5 41647 0 8.23791E-6
5-125912791-G-C p.Ile210Met missense ALDH7A1 1 83378 1.19936E-5 41689 0 8.23818E-6
5-125912799-C-T p.Ala208Thr missense ALDH7A1 3 83388 3.59764E-5 41694 0 1.19291E-5
5-125912800-G-A p.Ile207Ile synonymous ALDH7A1 11 83388 1.31913E-4 41694 1 6.26566E-4
5-125912806-G-A p.Asn205Asn synonymous ALDH7A1 33 83400 3.95683E-4 41700 0 0.001875
5-125912814-A-C p.Trp203Gly missense ALDH7A1 2 83408 2.39785E-5 41704 0 1.98815E-5
5-125912826-C-T p.Ala199Thr missense ALDH7A1 1 83406 1.19895E-5 41703 0 NA
5-125912832-G-A p.Pro197Ser missense ALDH7A1 2 83406 2.39791E-5 41703 0 1.5906E-5
5-125912835-A-G p.Phe196Leu missense ALDH7A1 1 83404 1.19898E-5 41702 0 NA
5-125912837-T-C p.Asn195Ser missense ALDH7A1 2 83400 2.39808E-5 41700 0 2.47268E-5
5-125912845-C-T p.Thr192Thr synonymous ALDH7A1 3 83402 3.59704E-5 41701 0 3.18898E-5
5-125912846-G-A p.Thr192Met missense ALDH7A1 4 83402 4.79605E-5 41701 0 1.649E-5
5-125912868-C-T p.Val185Ile missense ALDH7A1 5 83380 5.99664E-5 41690 0 1.59337E-4
5-125912869-G-A p.Pro184Pro synonymous ALDH7A1 16 83378 1.91897E-4 41689 0 0.00100705
5-125912879-T-C p.Gln181Arg missense ALDH7A1 1 83362 1.19959E-5 41681 0 1.19312E-5
5-125912893-A-G p.His176His synonymous ALDH7A1 5 83344 5.99923E-5 41672 0 1.91034E-4
5-125912899-A-C p.Ser174Ser synonymous ALDH7A1 1 83334 1.19999E-5 41667 0 8.34084E-6
5-125912900-G-C p.Ser174Cys missense ALDH7A1 1 83328 1.20008E-5 41664 0 NA
5-125912904-C-G c.518-1G>C splice_acceptor ALDH7A1 3 83322 3.60049E-5 41661 0 8.37226E-6
5-125915735-T-C n.44+4A>G splice_region ALDH7A1 1 43124 2.31889E-5 21562 0 NA
5-125918538-C-T c.517+5G>A splice_region ALDH7A1 1 82600 1.21065E-5 41300 0 8.24362E-6
5-125918566-C-G p.Gly165Ala missense ALDH7A1 7 82678 8.46658E-5 41339 0 6.57895E-4
5-125918568-A-C p.Ile164Met missense ALDH7A1 1 82702 1.20916E-5 41351 0 NA
5-125918611-T-C p.Tyr150Cys missense ALDH7A1 1 83064 1.20389E-5 41532 0 NA
5-125918618-G-C p.Gln148Glu missense ALDH7A1 1 83142 1.20276E-5 41571 0 7.55708E-5
5-125918628-C-T p.Val144Val synonymous ALDH7A1 3 83218 3.60499E-5 41609 0 3.18512E-5
5-125918630-C-A p.Val144Leu missense ALDH7A1 1 83228 1.20152E-5 41614 0 NA
5-125918633-C-G p.Gly143Arg missense ALDH7A1 1 83240 1.20135E-5 41620 0 NA
5-125918637-C-G p.Val141Val synonymous ALDH7A1 1 83262 1.20103E-5 41631 0 1.64766E-5
5-125918643-G-A p.Ile139Ile synonymous ALDH7A1 1 83276 1.20083E-5 41638 0 8.23778E-6
5-125918648-TC-T p.Ile139fs frameshift ALDH7A1 1 83288 1.20065E-5 41644 0 3.97674E-6
5-125919621-T-C c.393+3A>G splice_region ALDH7A1 1 83264 1.201E-5 41632 0 3.9769E-6
5-125919630-T-G p.Gly129Gly synonymous ALDH7A1 1 83298 1.20051E-5 41649 0 NA
5-125919630-T-C p.Gly129Gly synonymous ALDH7A1 1 83298 1.20051E-5 41649 0 NA
5-125919641-G-A p.Gln126* stop_gained ALDH7A1 2 83306 2.40079E-5 41653 0 NA
5-125919644-T-C p.Ile125Val missense ALDH7A1 128 83306 0.0015365 41653 0 0.00366638
5-125919650-C-T p.Glu123Lys missense ALDH7A1 2 83310 2.40067E-5 41655 0 NA
5-125919652-C-G p.Arg122Pro missense ALDH7A1 1 83310 1.20034E-5 41655 0 6.37105E-5
5-125919653-G-A p.Arg122Trp missense ALDH7A1 4 83308 4.80146E-5 41654 0 1.07132E-4
5-125919658-G-T p.Ala120Asp missense ALDH7A1 2 83320 2.40038E-5 41660 0 3.97652E-5
5-125919663-G-A p.Gly118Gly synonymous ALDH7A1 2 83320 2.40038E-5 41660 0 6.25E-4
5-125919672-T-C p.Arg115Arg synonymous ALDH7A1 1 83316 1.20025E-5 41658 0 1.64823E-5
5-125919687-T-A p.Arg110Arg synonymous ALDH7A1 1 83298 1.20051E-5 41649 0 NA
5-125919689-G-A p.Arg110* stop_gained ALDH7A1 5 83290 6.00312E-5 41645 0 9.55292E-5
5-125928355-C-T c.312+1G>A splice_donor ALDH7A1 3 83020 3.61359E-5 41510 0 3.1841E-5
5-125928374-T-C p.Ala98Ala synonymous ALDH7A1 2 83062 2.40784E-5 41531 0 NA
5-125928375-G-A p.Ala98Val missense ALDH7A1 1 83072 1.20378E-5 41536 0 3.97725E-6
5-125928379-C-T p.Glu97Lys missense ALDH7A1 2 83080 2.40732E-5 41540 0 NA
5-125928392-T-A p.Val92Val synonymous ALDH7A1 1 83040 1.20424E-5 41520 0 NA
5-125928393-A-ACG p.Val92fs frameshift ALDH7A1 1 83040 1.20424E-5 41520 0 NA
5-125928395-A-G p.Thr91Thr synonymous ALDH7A1 3657 82970 0.0440762 41485 141 0.0609879
5-125928395-A-AAGTACAAAAAAGGCACTACCCTAGAAATATGGCAGAGGT p.Thr91_Val92insProLeuProTyrPheTerGlySerAlaPhePheValLeu stop_gained ALDH7A1 1 83036 1.2043E-5 41518 0 NA
5-125928403-CAT-C p.Tyr88fs frameshift ALDH7A1 1 83016 1.20459E-5 41508 0 NA
5-125928405-T-A p.Tyr88Phe missense ALDH7A1 7 82980 8.43577E-5 41490 0 2.47643E-5
5-125929035-A-T c.246+8T>A splice_region ALDH7A1 2 83048 2.40825E-5 41524 0 7.61718E-5
5-125929035-ACT-A c.246+6_246+7delAG splice_region ALDH7A1 1 83048 1.20412E-5 41524 0 2.53906E-5
5-125929035-A-ACACACT c.246+7_246+8insAGTGTG splice_region ALDH7A1 1 83048 1.20412E-5 41524 0 NA
5-125929037-T-A c.246+6A>T splice_region ALDH7A1 5 83020 6.02265E-5 41510 0 0.00268248
5-125929038-CTT-C c.246+3_246+4delAA splice_region ALDH7A1 1 83038 1.20427E-5 41519 0 7.40617E-4
5-125929039-T-A c.246+4A>T splice_region ALDH7A1 1 83002 1.20479E-5 41501 0 0.00163487
5-125929040-T-C c.246+3A>G splice_region ALDH7A1 1 82988 1.20499E-5 41494 0 0.00158375
5-125929046-T-C p.Arg81Arg synonymous ALDH7A1 39 83096 4.69337E-4 41548 0 6.16565E-4
5-125929054-T-C p.Arg79Gly missense ALDH7A1 1 83170 1.20236E-5 41585 0 7.96121E-6
5-125929057-C-A p.Ala78Ser missense ALDH7A1 1 83196 1.20198E-5 41598 0 NA
5-125929067-G-T p.Asn74Lys missense ALDH7A1 1 83164 1.20244E-5 41582 0 3.98425E-6
5-125929067-G-A p.Asn74Asn synonymous ALDH7A1 1 83164 1.20244E-5 41582 0 1.5937E-5
5-125929078-G-A p.Pro71Ser missense ALDH7A1 1 83252 1.20117E-5 41626 0 NA
5-125929086-G-T p.Thr68Asn missense ALDH7A1 29 83262 3.48298E-4 41631 0 2.55249E-4
5-125929088-C-T p.Thr67Thr synonymous ALDH7A1 3 83268 3.60282E-5 41634 0 0.0010101
5-125929088-C-A p.Thr67Thr synonymous ALDH7A1 3 83268 3.60282E-5 41634 0 7.1611E-5
5-125929089-G-A p.Thr67Met missense ALDH7A1 4 83280 4.80307E-5 41640 0 5.70616E-4
5-125929116-G-A p.Ile72Ile synonymous ALDH7A1 22 83240 2.64296E-4 41620 0 2.54939E-4
5-125929116-G-T p.Ile72Ile synonymous ALDH7A1 1 83242 1.20132E-5 41621 0 3.18674E-5
5-125929121-T-A p.Met71Leu missense ALDH7A1 2 83222 2.40321E-5 41611 0 3.18246E-5
5-125929125-T-C p.Leu69Leu synonymous ALDH7A1 1 83200 1.20192E-5 41600 0 NA
5-125929132-C-T p.Arg67His missense ALDH7A1 1 83132 1.20291E-5 41566 0 1.19401E-5
5-125929133-G-A p.Arg67Cys missense ALDH7A1 1 83118 1.20311E-5 41559 0 3.58266E-5
5-125929862-G-A p.Ala97Val missense ALDH7A1 1 51446 1.94379E-5 25723 0 NA
5-125929869-G-A p.Pro95Ser missense ALDH7A1 1 51446 1.94379E-5 25723 0 1.36299E-5
5-125929873-T-G p.Pro93Pro synonymous ALDH7A1 3 51448 5.83113E-5 25724 0 3.18573E-5
5-125929882-G-A p.Ser90Ser synonymous ALDH7A1 1 51448 1.94371E-5 25724 0 NA
5-125929882-GC-AA p.Ser90Ile missense ALDH7A1 1 51448 1.94371E-5 25724 0 NA
5-125929883-C-A p.Ser90Ile missense ALDH7A1 1 51446 1.94379E-5 25723 0 NA
5-125929892-C-T p.Trp87* stop_gained ALDH7A1 1 51448 1.94371E-5 25724 0 NA
5-125929895-T-C p.Asp86Gly missense ALDH7A1 1 51448 1.94371E-5 25724 0 NA
5-125929901-AAGG-A p.Ser83del disruptive_inframe_deletion ALDH7A1 1 51448 1.94371E-5 25724 0 6.81403E-6
5-125929907-T-C p.Asn82Ser missense ALDH7A1 1 51446 1.94379E-5 25723 0 NA
5-125929907-T-A p.Asn82Ile missense ALDH7A1 32 51446 6.22011E-4 25723 0 5.58766E-4
5-125929908-T-C p.Asn82Asp missense ALDH7A1 4 51444 7.77544E-5 25722 0 3.18634E-4
5-125929918-A-G p.Arg78Arg synonymous ALDH7A1 1 51448 1.94371E-5 25724 0 NA
5-125929918-A-T p.Arg78Arg synonymous ALDH7A1 1 51448 1.94371E-5 25724 0 NA
5-125929920-G-A p.Arg78Cys missense ALDH7A1 1 51448 1.94371E-5 25724 0 NA
5-125929924-AAC-A p.Val76fs frameshift ALDH7A1 1 51448 1.94371E-5 25724 0 NA
5-125929945-G-A p.Asp69Asp synonymous ALDH7A1 1 51428 1.94447E-5 25714 0 6.81542E-6
5-125929954-T-G p.Ala66Ala synonymous ALDH7A1 31 51416 6.02925E-4 25708 0 5.73797E-4
5-125930695-G-T c.192+4C>A splice_region ALDH7A1 1 79800 1.25313E-5 39900 0 9.07944E-6
5-125930698-C-CCT p.Val65fs frameshift ALDH7A1 1 79968 1.2505E-5 39984 0 NA
5-125930708-G-T p.Gly61Gly synonymous ALDH7A1 1 80378 1.24412E-5 40189 0 2.13959E-5
5-125930711-T-G p.Gly60Gly synonymous ALDH7A1 1 80596 1.24076E-5 40298 0 NA
5-125930718-C-G p.Ser58Thr missense ALDH7A1 2 80940 2.47097E-5 40470 0 NA
5-125930729-C-T p.Val54Val synonymous ALDH7A1 1 81416 1.22826E-5 40708 0 NA
5-125930737-C-G p.Glu52Gln missense ALDH7A1 2 81566 2.452E-5 40783 0 3.70102E-5
5-125930748-C-T p.Arg48His missense ALDH7A1 1 81804 1.22243E-5 40902 0 NA
5-125930749-G-GT p.Arg48fs frameshift ALDH7A1 1 81810 1.22234E-5 40905 0 4.12776E-6
5-125930753-C-T p.Gly46Gly synonymous ALDH7A1 2 81824 2.44427E-5 40912 0 4.12821E-6
5-125930758-G-A p.Leu45Leu synonymous ALDH7A1 2 81898 2.44206E-5 40949 0 5.96214E-5
5-125930771-C-T p.Ala40Ala synonymous ALDH7A1 2 81994 2.4392E-5 40997 0 NA
5-125930787-T-C p.Asn35Ser missense ALDH7A1 1 82012 1.21933E-5 41006 0 1.89573E-5
5-125930791-T-C p.Ile34Val missense ALDH7A1 1 82012 1.21933E-5 41006 0 1.98468E-5
5-125930796-A-T p.Leu32His missense ALDH7A1 3 81986 3.65916E-5 40993 0 NA
5-125930806-T-C p.Met29Val missense ALDH7A1 1 81980 1.21981E-5 40990 0 2.33568E-5
5-125930808-AAGGCGGC-A p.Ala26fs frameshift ALDH7A1 1 81968 1.21999E-5 40984 0 NA
5-125930811-G-A p.Ala27Val missense ALDH7A1 1 81918 1.22073E-5 40959 0 NA
5-125930814-G-A p.Ala26Val missense ALDH7A1 2 81890 2.4423E-5 40945 0 NA
5-125930824-T-C p.Ser23Gly missense ALDH7A1 1 81834 1.22199E-5 40917 0 5.54674E-6
5-125930825-C-T p.Trp22* stop_gained ALDH7A1 1 81822 1.22217E-5 40911 0 5.54539E-6
5-125930828-A-G p.Pro21Pro synonymous ALDH7A1 23 81798 2.8118E-4 40899 0 2.37933E-4
5-125930842-T-C p.Lys17Glu missense ALDH7A1 2 81742 2.44672E-5 40871 0 NA
5-125930844-C-CTGGT p.Ser16fs frameshift ALDH7A1 2 81732 2.44702E-5 40866 0 1.25429E-4
5-125930852-T-C p.Ala13Ala synonymous ALDH7A1 21 81670 2.57132E-4 40835 0 6.25E-4
5-125930854-C-T p.Ala13Thr missense ALDH7A1 2 81628 2.45014E-5 40814 0 0.00461066
5-125930855-A-G p.Ala12Ala synonymous ALDH7A1 3 81626 3.6753E-5 40813 0 4.53145E-5
5-125930856-GC-G p.Ala12fs frameshift ALDH7A1 19 81606 2.32826E-4 40803 0 3.18431E-4
5-125930856-G-A p.Ala12Val missense ALDH7A1 1 81606 1.2254E-5 40803 0 NA
5-125930858-GTG-CTC p.His11Glu missense ALDH7A1 2 81598 2.45104E-5 40799 0 NA
5-125930860-G-A p.His11Tyr missense ALDH7A1 1 81574 1.22588E-5 40787 0 1.25908E-5
5-125930868-A-G p.Leu8Pro missense ALDH7A1 1 81452 1.22772E-5 40726 0 NA
5-125930874-C-A p.Arg6Leu missense ALDH7A1 2 81322 2.45936E-5 40661 0 NA
5-125930875-G-A p.Arg6Cys missense ALDH7A1 3 81356 3.6875E-5 40678 0 1.91747E-5
5-125930877-G-T p.Pro5His missense ALDH7A1 1 81342 1.22938E-5 40671 0 NA
5-125930883-C-T p.Arg3His missense ALDH7A1 16 81156 1.97151E-4 40578 0 2.22958E-4
5-125930883-C-A p.Arg3Leu missense ALDH7A1 2 81156 2.46439E-5 40578 0 1.28447E-5
5-125930884-G-A p.Arg3Cys missense ALDH7A1 1 81080 1.23335E-5 40540 0 6.37064E-5
5-125930896-G-C p.Leu26Val missense ALDH7A1 1 80744 1.23848E-5 40372 0 NA
5-125930897-C-A p.Gly25Gly synonymous ALDH7A1 1 80730 1.2387E-5 40365 0 6.46588E-6
5-125930899-C-G p.Gly25Arg missense ALDH7A1 1 80642 1.24005E-5 40321 0 1.27445E-4
5-125930902-G-C p.Pro24Ala missense ALDH7A1 2 80580 2.48201E-5 40290 0 NA
5-125930903-A-C p.Ser23Arg missense ALDH7A1 2 80548 2.48299E-5 40274 0 5.18901E-5
5-125930909-G-T p.Ile21Ile synonymous ALDH7A1 2 80352 2.48905E-5 40176 0 NA
5-125930914-G-GC p.Leu20fs frameshift ALDH7A1 2 80088 2.49725E-5 40044 0 NA
5-125930917-C-T p.Gly19Arg missense ALDH7A1 5 79988 6.25094E-5 39994 0 5.22944E-5
5-125930919-A-G p.Leu18Pro missense ALDH7A1 215 79894 0.00269107 39947 2 0.00580326
5-125930921-G-A p.Gly17Gly synonymous ALDH7A1 1 79762 1.25373E-5 39881 0 6.56866E-6
5-125930922-C-T p.Gly17Asp missense ALDH7A1 1 79728 1.25426E-5 39864 0 NA
5-125930924-C-G p.Gln16His missense ALDH7A1 94 79680 0.00117972 39840 0 0.00210365
5-125930929-A-T p.Ser15Thr missense ALDH7A1 1 79394 1.25954E-5 39697 0 NA
5-125930932-T-G p.Ser14Arg missense ALDH7A1 1 79270 1.26151E-5 39635 0 6.62901E-6
5-125930933-G-A p.Ser13Ser synonymous ALDH7A1 1 79190 1.26279E-5 39595 0 NA
5-125930941-A-C p.Tyr11Asp missense ALDH7A1 1 78606 1.27217E-5 39303 0 NA
5-125930943-A-AGGGGGGGGGGGGGGGGGG p.Gly9_Leu10insProProProProProPro conservative_inframe_insertion ALDH7A1 1 78580 1.27259E-5 39290 0 NA
5-125930943-A-G p.Leu10Pro missense ALDH7A1 1 78588 1.27246E-5 39294 0 NA
5-125930944-G-A p.Leu10Phe missense ALDH7A1 8 78420 1.02015E-4 39210 0 1.92209E-4
5-125930949-G-T p.Ala8Glu missense ALDH7A1 1 77452 1.29112E-5 38726 0 NA
5-125930950-C-T p.Ala8Thr missense ALDH7A1 1988 77024 0.0258101 38512 37 0.0368503
5-125930952-C-T p.Gly7Glu missense ALDH7A1 4 77522 5.15983E-5 38761 0 2.05595E-5
5-125930954-C-G p.Arg6Arg synonymous ALDH7A1 3 77432 3.87437E-5 38716 0 2.27116E-4
5-125930955-C-G p.Arg6Pro missense ALDH7A1 1 77200 1.29534E-5 38600 0 NA
5-125930955-C-T p.Arg6Gln missense ALDH7A1 2 77200 2.59067E-5 38600 0 1.37844E-5
5-125930959-C-T p.Gly5Arg missense ALDH7A1 2 76754 2.60573E-5 38377 0 2.91036E-4
5-125930960-G-A c.-70C>T 5_prime_UTR_premature_start_codon_gain ALDH7A1 1 76372 1.30938E-5 38186 0 9.739E-5
5-125930970-A-C p.Met1? start_lost ALDH7A1 228 75514 0.00301931 37757 0 0.00218779
5-125930971-T-C p.Met1? start_lost ALDH7A1 6 75452 7.95208E-5 37726 0 1.14443E-4
5-125931007-C-A c.-117G>T 5_prime_UTR_premature_start_codon_gain ALDH7A1 253 69010 0.00366614 34505 1 0.0154386
5-125931013-C-A c.-123G>T 5_prime_UTR_premature_start_codon_gain ALDH7A1 1 68042 1.46968E-5 34021 0 NA
5-125931028-T-A c.-138A>T 5_prime_UTR_premature_start_codon_gain ALDH7A1 15 65836 2.27839E-4 32918 0 6.46287E-4
5-125931037-G-A c.-147C>T 5_prime_UTR_premature_start_codon_gain ALDH7A1 3 64140 4.67727E-5 32070 0 NA
5-125931049-G-A c.-159C>T 5_prime_UTR_premature_start_codon_gain ALDH7A1 2 61210 3.26744E-5 30605 0 NA
5-125931070-A-T c.-180T>A 5_prime_UTR_premature_start_codon_gain ALDH7A1 1 56544 1.76853E-5 28272 0 NA
5-125931074-G-C c.-184C>G 5_prime_UTR_premature_start_codon_gain ALDH7A1 3 55826 5.37384E-5 27913 0 NA
5-125931084-G-A c.-194C>T 5_prime_UTR_premature_start_codon_gain ALDH7A1 3 52334 5.73241E-5 26167 0 NA